Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria

Blood Cells, Molecules, and Diseases

Volumn 42, Issue 2, 2009, Pages 167-173

  Ulbrichova, Dana ^a   Schneider Yin, Xiaoye ^b   Mamet, Rivka ^c   Saudek, Vladimir ^d   Martasek, Pavel ^a   Minder, Elisabeth I ^b   Schoenfeld, Nili ^c,e  

^a CHARLES UNIVERSITY   (Czech Republic)

^b Zentrallabor   (Switzerland)

^c RABIN MEDICAL CENTER   (Israel)

^d Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^e TEL AVIV UNIVERSITY   (Israel)

Author keywords

Acute intermittent porphyria; HMBS mutation; In vitro expression; Structure function correlation

Indexed keywords

AMINOLEVULINIC ACID; ENZYME; HYDROXYMETHLBILANE SYNTHASE; PORPHOBILINOGEN; UNCLASSIFIED DRUG;

ACUTE INTERMITTENT PORPHYRIA; ADULT; AGED; ARTICLE; CHEMICAL ANALYSIS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFECT; ENZYME STRUCTURE; ESCHERICHIA COLI; FEMALE; GENE; GENE EXPRESSION; HUMAN; HYDROXYMETHLBILANE SYNTHASE GENE; MALE; MISSENSE MUTATION; PH; PRESCHOOL CHILD; PRIORITY JOURNAL; WILD TYPE;

ADOLESCENT; ADULT; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; AMINOLEVULINIC ACID; DNA MUTATIONAL ANALYSIS; ESCHERICHIA COLI PROTEINS; EUROPE; EXONS; FEMALE; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; INDIA; ISRAEL; JEWS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION, MISSENSE; POINT MUTATION; PORPHOBILINOGEN; PORPHYRIA, ACUTE INTERMITTENT; PROTEIN CONFORMATION; PROTEIN STABILITY; SEQUENCE DELETION; STRUCTURE-ACTIVITY RELATIONSHIP; YOUNG ADULT;

ESCHERICHIA COLI; PROKARYOTA;

EID: 59549095273     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2008.11.001     Document Type: Article

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